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肌阵挛性肌张力障碍综合征:病例报告

Myoclonus-dystonia syndrome: case report.

作者信息

Akarsu Emel Oguz, Surmeli Reyhan, Yalcin Destina

机构信息

Department of Neurology, Ersin Aslan State Hospital, Gaziantep, Turkey.

Department of Neurology, Umraniye Training and Research Hospital, Istanbul, Turkey.

出版信息

North Clin Istanb. 2015 Jan 24;1(3):187-190. doi: 10.14744/nci.2014.28247. eCollection 2014.

DOI:10.14744/nci.2014.28247
PMID:28058330
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5175042/
Abstract

Myoclonus-dystonia syndrome (MDS) is a rare disease manifesting myoclonus as the only neurological symptom which may be accompanied by dystonia. It usually starts in the first or second decade of life. It has a benign course with spontaneous remissions but can cause functional disability in some patients. In this paper, we report a patient diagnosed as probable MDS on the basis of clinical and electrophysiological features who showed marked improvement under levetiracetam treatment.

摘要

肌阵挛性肌张力障碍综合征(MDS)是一种罕见疾病,以肌阵挛作为唯一的神经症状,可能伴有肌张力障碍。它通常在生命的第一个或第二个十年开始发病。其病程良性,有自发缓解情况,但在一些患者中可导致功能残疾。在本文中,我们报告了一名根据临床和电生理特征被诊断为可能患有MDS的患者,该患者在左乙拉西坦治疗下有显著改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cca/5175042/0397060e8463/NCI-1-187-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cca/5175042/01541e431142/NCI-1-187-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cca/5175042/0397060e8463/NCI-1-187-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cca/5175042/01541e431142/NCI-1-187-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cca/5175042/0397060e8463/NCI-1-187-g002.jpg

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本文引用的文献

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Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.定义肌阵挛-肌张力障碍中的ε-假性球蛋白(SGCE)基因表型特征:对基因检测标准的再评估。
Mov Disord. 2013 Jun;28(6):787-94. doi: 10.1002/mds.25506. Epub 2013 May 15.
2
A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.
J Neurol. 2011 Jun;258(6):1186-8. doi: 10.1007/s00415-011-5911-6. Epub 2011 Jan 26.
3
Myoclonus-dystonia: an update.肌阵挛性肌张力障碍:最新进展
Mov Disord. 2009 Mar 15;24(4):479-89. doi: 10.1002/mds.22425.
4
Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome.遗传性肌阵挛-肌张力障碍综合征患者中肌阵挛和震颤对丘脑深部脑刺激参数的反应
Clin Neurol Neurosurg. 2009 Apr;111(3):303-6. doi: 10.1016/j.clineuro.2008.10.015. Epub 2008 Dec 10.
5
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.肌阵挛性肌张力障碍:一大群患者的临床与遗传学评估
J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099. Epub 2008 Dec 9.
6
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.DYT11型肌阵挛性肌张力障碍综合征患者肌阵挛的神经生理学研究。
Mov Disord. 2008 Oct 30;23(14):2041-8. doi: 10.1002/mds.22256.
7
Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.伴有跌倒和书写痉挛的ε-肌聚糖基因突变的罕见家族性表现。
Mov Disord. 2008 Oct 15;23(13):1913-5. doi: 10.1002/mds.21935.
8
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.肌阵挛性肌张力障碍:与SGCE基因突变相关的临床和电生理模式
Neurology. 2008 Mar 25;70(13):1010-6. doi: 10.1212/01.wnl.0000297516.98574.c0.
9
Myoclonus-dystonia: significance of large SGCE deletions.肌阵挛性肌张力障碍:大型SGCE基因缺失的意义
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Cochrane Database Syst Rev. 2005 Jan 25(1):CD004314. doi: 10.1002/14651858.CD004314.pub2.